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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC12A5
solute carrier family 12 member 5
Chromosome 20 Β· 20q13.12
NCBI Gene: 57468Ensembl: ENSG00000124140.15HGNC: HGNC:13818UniProt: Q9H2X9
82PubMed Papers
22Diseases
0Drugs
46Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cell peripheryhypotonic responseintracellular chloride ion homeostasispotassium:chloride symporter activitygenetic developmental and epileptic encephalopathymalignant migrating partial seizures of infancygeneralised epilepsyepilepsy of infancy with migrating focal seizures
✦AI Summary

SLC12A5 encodes the neuron-specific K+-Cl- cotransporter KCC2, which serves as the major chloride extruder in mature neurons and is essential for establishing proper neuronal chloride homeostasis 1. By maintaining low intracellular chloride levels, KCC2 enables GABA and glycine receptors to mediate hyperpolarization and neuronal inhibition, making it crucial for the excitation-inhibition balance in the central nervous system 1. The protein mediates electroneutral potassium-chloride cotransport and is involved in dendritic spine development 2. KCC2 expression is developmentally regulated, with upregulation driving the postsynatal switch of GABA from excitation to inhibition 3. Loss-of-function variants in SLC12A5 have pathogenic potential for neurological disorders, particularly epilepsy and developmental encephalopathies 1. The gene produces multiple alternatively spliced transcripts that are differentially expressed in psychiatric conditions, with altered expression patterns observed in schizophrenia and major depression 3. Beyond neurological functions, SLC12A5 has been implicated in cancer biology, where it promotes tumor growth and ferroptosis resistance in hepatocellular carcinoma through ER stress mechanisms 4. Genetic variations affecting SLC12A5 expression are associated with brain structural and functional differences in healthy individuals 5.

Sources cited
1
KCC2 is the main chloride extruder of neurons and loss-of-function variants have pathogenic potential for seizure disorders
PMID: 30576625
2
SLC12A5 is involved in dendritic spine development and is a marker gene for early Alzheimer's disease subtype
PMID: 39650656
3
KCC2 expression is developmentally regulated and alternative transcripts are differentially expressed in schizophrenia and depression
PMID: 22496567
4
SLC12A5 promotes hepatocellular carcinoma growth and ferroptosis resistance through ER stress mechanisms
PMID: 36645171
5
Genetic variations in SLC12A5 are associated with brain structure and function differences in healthy individuals
PMID: 30668668
Disease Associationsβ“˜22
genetic developmental and epileptic encephalopathyOpen Targets
0.70Moderate
malignant migrating partial seizures of infancyOpen Targets
0.66Moderate
generalised epilepsyOpen Targets
0.61Moderate
epilepsy of infancy with migrating focal seizuresOpen Targets
0.46Moderate
Febrile seizure (within the age range of 3 months to 6 years)Open Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
major depressive disorderOpen Targets
0.24Weak
Abnormality of the breastOpen Targets
0.19Weak
mental or behavioural disorderOpen Targets
0.17Weak
schizophreniaOpen Targets
0.14Weak
autism spectrum disorderOpen Targets
0.14Weak
bipolar disorderOpen Targets
0.14Weak
developmental and epileptic encephalopathyOpen Targets
0.12Weak
Intellectual disabilityOpen Targets
0.12Weak
movement disorderOpen Targets
0.12Weak
psoriasisOpen Targets
0.12Weak
attention deficit hyperactivity disorderOpen Targets
0.12Weak
microcephalyOpen Targets
0.11Weak
risk-taking behaviourOpen Targets
0.11Weak
atrial fibrillationOpen Targets
0.11Weak
Developmental and epileptic encephalopathy 34UniProt
Epilepsy, idiopathic generalized 14UniProt
Pathogenic Variants46
NM_020708.5(SLC12A5):c.2009G>A (p.Trp670Ter)Pathogenic
Developmental and epileptic encephalopathy, 34
β˜…β˜…β˜†β˜†2025β†’ Residue 670
NM_020708.5(SLC12A5):c.2812C>T (p.Arg938Ter)Pathogenic
Developmental and epileptic encephalopathy, 34
β˜…β˜…β˜†β˜†2025β†’ Residue 938
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp)Likely pathogenic
Developmental and epileptic encephalopathy, 34
β˜…β˜…β˜†β˜†2024β†’ Residue 528
NM_020708.5(SLC12A5):c.266del (p.Lys89fs)Pathogenic
Developmental and epileptic encephalopathy, 34
β˜…β˜…β˜†β˜†2022β†’ Residue 89
NM_020708.5(SLC12A5):c.687del (p.Asn229fs)Pathogenic
Developmental and epileptic encephalopathy, 34
β˜…β˜†β˜†β˜†2025β†’ Residue 229
NM_020708.5(SLC12A5):c.855-1G>TLikely pathogenic
Developmental and epileptic encephalopathy, 34
β˜…β˜†β˜†β˜†2025
NM_020708.5(SLC12A5):c.3050del (p.Lys1017fs)Pathogenic
Developmental and epileptic encephalopathy, 34
β˜…β˜†β˜†β˜†2025β†’ Residue 1017
NM_020708.5(SLC12A5):c.2547+2T>GLikely pathogenic
Epilepsy, idiopathic generalized, susceptibility to, 14
β˜…β˜†β˜†β˜†2025
NM_020708.5(SLC12A5):c.542del (p.Gly181fs)Pathogenic
Developmental and epileptic encephalopathy, 34
β˜…β˜†β˜†β˜†2024β†’ Residue 181
NM_020708.5(SLC12A5):c.2161C>T (p.Gln721Ter)Pathogenic
Developmental and epileptic encephalopathy, 34
β˜…β˜†β˜†β˜†2024β†’ Residue 721
NM_020708.5(SLC12A5):c.1787G>A (p.Trp596Ter)Pathogenic
Developmental and epileptic encephalopathy, 34
β˜…β˜†β˜†β˜†2024β†’ Residue 596
NM_020708.5(SLC12A5):c.1492dup (p.Ala498fs)Pathogenic
Developmental and epileptic encephalopathy, 34
β˜…β˜†β˜†β˜†2024β†’ Residue 498
NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro)Likely pathogenic
Developmental and epileptic encephalopathy, 34
β˜…β˜†β˜†β˜†2024β†’ Residue 403
NM_020708.5(SLC12A5):c.854+1G>ALikely pathogenic
Developmental and epileptic encephalopathy, 34
β˜…β˜†β˜†β˜†2024
NM_020708.5(SLC12A5):c.53-2A>CLikely pathogenic
Developmental and epileptic encephalopathy, 34
β˜…β˜†β˜†β˜†2023
NM_020708.5(SLC12A5):c.1337-2A>GLikely pathogenic
Developmental and epileptic encephalopathy, 34
β˜…β˜†β˜†β˜†2023
NM_020708.5(SLC12A5):c.1287del (p.Lys429fs)Pathogenic
Developmental and epileptic encephalopathy, 34
β˜…β˜†β˜†β˜†2023β†’ Residue 429
NM_020708.5(SLC12A5):c.1030C>T (p.Gln344Ter)Likely pathogenic
Developmental and epileptic encephalopathy, 34
β˜…β˜†β˜†β˜†2023β†’ Residue 344
NM_020708.5(SLC12A5):c.2609A>C (p.Gln870Pro)Likely pathogenic
Developmental and epileptic encephalopathy, 34
β˜…β˜†β˜†β˜†2023β†’ Residue 870
NM_020708.5(SLC12A5):c.1845G>A (p.Trp615Ter)Pathogenic
Developmental and epileptic encephalopathy, 34
β˜…β˜†β˜†β˜†2023β†’ Residue 615
View on ClinVar β†—
Related Genes
BDNFProtein interaction100%GAD2Protein interaction99%WNK3Protein interaction83%STK39Protein interaction83%WNK1Protein interaction83%NETO2Protein interaction81%
Tissue Expression6 tissues
Brain
100%
Ovary
1%
Lung
1%
Liver
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SLC12A5BDNFGAD2WNK3STK39WNK1NETO2
PROTEIN STRUCTURE
Preparing viewer…
PDB6M23 Β· 3.20 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.23Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.15 [0.10–0.23]
RankingsWhere SLC12A5 stands among ~20K protein-coding genes
  • #5,824of 20,598
    Most Researched82
  • #1,405of 5,498
    Most Pathogenic Variants46
  • #605of 17,882
    Most Constrained (LOEUF)0.23 Β· top 5%
Genes detectedSLC12A5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Combination of autophagy and NFE2L2/NRF2 activation as a treatment approach for neuropathic pain.
PMID: 33834930
Autophagy Β· 2021
1.00
2
Identification of early Alzheimer's disease subclass and signature genes based on PANoptosis genes.
PMID: 39650656
Front Immunol Β· 2024
0.90
3
Pathogenic potential of human SLC12A5 variants causing KCC2 dysfunction.
PMID: 30576625
Brain Res Β· 2019
0.80
4
Chromosomal localization of SLC12A5/Slc12a5, the human and mouse genes for the neuron-specific K(+)-Cl(-) cotransporter (KCC2) defines a new region of conserved homology.
PMID: 11701957
Cytogenet Cell Genet Β· 2001
0.70
5
SLC12A5 promotes hepatocellular carcinoma growth and ferroptosis resistance by inducing ER stress and cystine transport changes.
PMID: 36645171
Cancer Med Β· 2023
0.60